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Article

Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1.

Current opinion in neurology - 1 Apr 2001

MacCollin M, Kwiatkowski D

Abstract excerpt

The phakomatoses are a diverse group of diseases characterized by skin lesions in early childhood followed by the development of tumors in many other organs. Tuberous sclerosis complex and neurofibromatosis 1 are of special interest to the neurologist because of their prominent neuro-oncological and neuro-developmental consequences. The cloning of genes responsible for these two diseases has led to the...

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PMID: 11262730
DOI: 10.1097/00019052-200104000-00005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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